更多抗Survival of Motor Neuron 2, Centromeric的相互作用对抗体

While the above conclusions are firmly supported by the experimental data presented, we discuss and justify the need of deep proteomic techniques for the study of SMN (显示 STMN1 抗体) complex components (orphan and bound) turn-over to understand the physiological relevant mechanisms of degradation of SMN (显示 STMN1 抗体) and SMNDelta7 (SMN1 (显示 SMN1 抗体) and SMN2 (显示 SMN1 抗体))in the cell

Results report exon 6B, a novel exon, generated by exonization of an intronic Alu-like sequence from both SMN1 (显示 SMN1 抗体) and SMN2 (显示 SMN1 抗体), and validate the expression of exon 6B-containing transcripts SMN6B and SMN6BDelta7 in human tissues and cell lines. hnRNP C is shown to be a potential regulator of its expression and demonstrate that SMN6B is a substrate of nonsense-mediated decay. Also, an interaction of SMN6B with Gemin2 (显示 GEMIN2 抗体) was found.

Our work has not only expanded the number of pre-mRNA targets for RBM10 (显示 RBM10 抗体), but identified RBM10 (显示 RBM10 抗体) as a novel regulator of SMN2 (显示 SMN1 抗体) alternative inclusion.

We have now identified A-44G as an additional positive disease modifier, present in a group of patients carrying 3 SMN2 (显示 SMN1 抗体) copies. Through systematic mutagenesis, we found that the improvement in exon 7 splicing is mainly attributable to the A-44G transition in intron 6.

Ongoing research may yield other treatments, especially for children who have not responded to Spinraza. A gene therapy delivered by adeno (显示 ADORA2A 抗体)-associated virus type 9 (AAV9) is designed to replace or correct SMN1 (显示 SMN1 抗体) . Cure SMA (显示 SMN1 抗体) is supporting research in this area as well as studies of small molecules that correct SMN2 (显示 SMN1 抗体) splicing or spur it to produce more protein.

To determine the dependence of oligodendrocyte (OL)on the Smn (显示 STMN1 抗体) protein(SMN1 (显示 SMN1 抗体)), we utilized the Smn (显示 STMN1 抗体)-/-;SMN2 (显示 SMN1 抗体) (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn (显示 STMN1 抗体) protein, it does not play a key role in myelination of the CNS, at least in the context of spinal muscular atrophy pathogenesis.

The spleen is disproportionately small in the murine model of spinal muscular atrophy with a deficiency in SMN2 (显示 SMN1 抗体).

Survival of Motor Neuron 2, Centromeric (SMN2) 抗原简介

Antigen Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described.